Canonical Allele Identifier: CA321960282
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 679176
ClinVar RCV Id: RCV000838819
dbSNP Id: rs66929103
gnomAD v2: 21-47407703-CG-C
gnomAD v3: 21-45987789-CG-C
gnomAD v4: 21-45987789-CG-C
COSMIC: COSN20122108 COSN20124101
MyVariant Identifiers: chr21:g.47407704del (hg19) chr21:g.47407708_47407718delinsTCCAGATGGA (hg19) chr21:g.45987790del (hg38) chr21:g.45987794_45987804delinsTCCAGATGGA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987794del , CM000683.2:g.45987794del GRCh38
NC_000021.8:g.47407708del , CM000683.1:g.47407708del GRCh37
NC_000021.7:g.46232136del NCBI36
NG_008674.1:g.11046del , LRG_475:g.11046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.804+140del MANE Select ENSP00000355180.3:n.804+140del
ENST00000361866.7:c.804+140del ENSP00000355180.3:n.804+140del
ENST00000612273.1:c.804+140del ENSP00000483630.1:n.804+140del
NM_001848.2:c.804+140del , LRG_475t1:c.804+140del NP_001839.2:n.804+140del
NM_001848.3:c.804+140del MANE Select NP_001839.2:n.804+140del
Search 100 bp 5'
Search 100 bp 3'